| K27M mutation in histone H3. 3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas DA Khuong-Quang, P Buczkowicz, P Rakopoulos, XY Liu, ... Acta neuropathologica 124, 439-447, 2012 | 962 | 2012 |
| Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations P Buczkowicz, C Hoeman, P Rakopoulos, S Pajovic, L Letourneau, ... Nature genetics 46 (5), 451-456, 2014 | 622 | 2014 |
| Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy CP Couturier, S Ayyadhury, PU Le, J Nadaf, J Monlong, G Riva, R Allache, ... Nature communications 11 (1), 3406, 2020 | 372 | 2020 |
| HLA‐DQ relative risks for coeliac disease in European populations: a study of the European Genetics Cluster on Coeliac Disease P Margaritte‐Jeannin, MC Babron, M Bourgey, AS Louka, F Clot, ... Tissue antigens 63 (6), 562-567, 2004 | 264 | 2004 |
| Integrated (epi)-genomic analyses identify subgroup-specific therapeutic targets in CNS rhabdoid tumors J Torchia, B Golbourn, S Feng, KC Ho, P Sin-Chan, A Vasiljevic, ... Cancer cell 30 (6), 891-908, 2016 | 224 | 2016 |
| Variation in genomic landscape of clear cell renal cell carcinoma across Europe G Scelo, Y Riazalhosseini, L Greger, L Letourneau, M Gonzàlez-Porta, ... Nature communications 5 (1), 5135, 2014 | 191 | 2014 |
| HLA related genetic risk for coeliac disease M Bourgey, G Calcagno, N Tinto, D Gennarelli, P Margaritte-Jeannin, ... Gut 56 (8), 1054-1059, 2007 | 167 | 2007 |
| GenPipes: an open-source framework for distributed and scalable genomic analyses M Bourgey, R Dali, R Eveleigh, KC Chen, L Letourneau, J Fillon, ... Gigascience 8 (6), giz037, 2019 | 144 | 2019 |
| Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot DJ Page, MJ Miossec, SG Williams, RM Monaghan, E Fotiou, HJ Cordell, ... Circulation research 124 (4), 553-563, 2019 | 143 | 2019 |
| PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions ND Olson, J Wagner, J McDaniel, SH Stephens, ST Westreich, ... Cell genomics 2 (5), 2022 | 115 | 2022 |
| Replication analysis confirms the association of ARID5B with childhood B-cell acute lymphoblastic leukemia J Healy, C Richer, M Bourgey, EA Kritikou, D Sinnett Haematologica 95 (9), 1608, 2010 | 103 | 2010 |
| Human T-bet governs innate and innate-like adaptive IFN-γ immunity against mycobacteria R Yang, F Mele, L Worley, D Langlais, J Rosain, I Benhsaien, H Elarabi, ... Cell 183 (7), 1826-1847. e31, 2020 | 102 | 2020 |
| Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child M Ogishi, R Yang, C Aytekin, D Langlais, M Bourgey, T Khan, FA Ali, ... Nature medicine 27 (9), 1646-1654, 2021 | 83 | 2021 |
| Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19 G Povysil, G Butler-Laporte, N Shang, C Wang, A Khan, M Alaamery, ... The Journal of clinical investigation 131 (14), 2021 | 66 | 2021 |
| Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy V Béziat, F Rapaport, J Hu, M Titeux, MB des Claustres, M Bourgey, ... Cell 184 (14), 3812-3828. e30, 2021 | 60 | 2021 |
| Use of immunoglobulins in the prevention of GvHD in a xenogeneic NOD/SCID/γc− mouse model J Gregoire-Gauthier, L Durrieu, A Duval, F Fontaine, MM Dieng, ... Bone marrow transplantation 47 (3), 439-450, 2012 | 56 | 2012 |
| Cell-free DNA tissues of origin by methylation profiling reveals significant cell, tissue, and organ-specific injury related to COVID-19 severity AP Cheng, MP Cheng, W Gu, JS Lenz, E Hsu, E Schurr, G Bourque, ... Med 2 (4), 411-422. e5, 2021 | 51 | 2021 |
| Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria J Rosain, AL Neehus, J Manry, R Yang, J Le Pen, W Daher, Z Liu, ... Cell 186 (3), 621-645. e33, 2023 | 30 | 2023 |
| Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative G Butler-Laporte, G Povysil, JA Kosmicki, ET Cirulli, T Drivas, S Furini, ... PLoS genetics 18 (11), e1010367, 2022 | 28 | 2022 |
| Legacy data confound genomics studies L Anderson-Trocmé, R Farouni, M Bourgey, Y Kamatani, K Higasa, ... Molecular biology and evolution 37 (1), 2-10, 2020 | 27 | 2020 |
Guillaume BourqueProfessor, Human Genetics, McGill UniversityVerified email at mcgill.ca
